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Article

Abnormal Immune Profile in Individuals with Kabuki Syndrome.

Journal of clinical immunology - 12 Sept 2024

Comel Margot, Saad Norma, Sil Debapratim, Apparailly Florence, Willems Marjolaine, Djouad Farida, Andrau Jean-Christophe, Lozano Claire, Genevieve David

Abstract excerpt

OBJECTIVE: To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder. METHODS: We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (N = 18) of individuals with Kabuki syndrome. RESULTS: All 18 individuals underwent genetic analysis: 15 had a variant in KMT2D and 3...

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Source

Identifiers

PMID: 39264387
DOI: 10.1007/s10875-024-01796-5

Genes

CD4
KMT2D
KDM6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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